When Birt et al. first described BHD syndrome in 1977 it was based on the presentation of hereditary fibrofolliculomas, trichodiscomas and acrochordons, predominately seen on patients’ faces and necks. In 2005 Schaffer et al. described the presence of an additional facial cutaneous manifestation – perifollicular fibromas/angiofibromas – on an individual BHD patient. A new report from Kamada et al., (2015) describes these perifollicular fibromas on the lower back of a Japanese patient with no other cutaneous manifestations.
The 32-year-old female had initially presented with a pneumothorax and multiple pulmonary cysts were revealed by CT. Given her history of seven prior pneumothoraces she was presumptively diagnosed with BHD – a diagnosis confirmed by genetic testing. Cutaneous examination revealed multiple small, skin-coloured papules on her right lower back histologically determined to be perifollicular fibromas. It has previously been suggested that fibrofolliculomas, trichodiscomas and perifollicular fibromas are part of the same clinical spectrum and Kamada et al. suppose that perifollicular fibromas should also be associated with BHD.